Mutation in MEOX1 gene causes a recessive Klippel-Feil syndrome subtype

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Bayrakli F., Guclu B., Yakicier C., Balaban H., Kartal U., Erguner B., ...More

BMC GENETICS, vol.14, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 14
  • Publication Date: 2013
  • Doi Number: 10.1186/1471-2156-14-95
  • Journal Name: BMC GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Klippel-Feil syndrome, MEOX1, Whole-exome sequencing, Vertebra, Whole genome linkage analysis, SEQUENCING DATA, FEATURES
  • Middle East Technical University Affiliated: Yes

Abstract

Background: Klippel-Feil syndrome (KFS) is characterized by the developmental failure of the cervical spine and has two dominantly inherited subtypes. Affected individuals who are the children of a consanguineous marriage are extremely rare in the medical literature, but the gene responsible for this recessive trait subtype of KFS has recently been reported.